Marfan syndrome (MFS; OMIM 154700) is an autosomal dominant systemic disorder of connective tissue. MFS is due to mutations in the fibrillin 1 gene [Dietz et al., 1991]. However, the diagnosis of MFS is mostly based on clinical aspects and relies on the recognition of the Ghent criteria, which specify the involvement of three systems with two major diagnostic manifestations [De Paepe et al., 1996]. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems with a broad phenotypic spectrum. Ectopia lentis is a hallmark feature often associated with myopia observed in about 60% of affected individuals. Although sparsity of subcutaneous fat tissue may occur in MFS [Dietz et al., 1991], it is usually not as severe as in the generalized lipodystrophy syndromes. Loss of subcutaneous fat tissue is the most prominent feature in several disorders of congenital generalized lipodystrophy (CGL). Mutations in three different genes (AGPAT2, BSCL2, and CAV1) have been identified to cause CGL type III [Agarwal et al., 2004; Ebihara et al., 2004; Miranda et al., 2009]. Mutations in PTRFCAVIN were identified in CGL type IV [Cohn et al., 2007]. Familial partial lipodystrophy type 2 is due to mutations in the LMNA gene [Cao and Hegele, 2000], and mandibuloacral dysplasia with type B lipodystrophy is due to a mutation in FACE1 (also known as ZMPSTE24 [Simha et al., 2003]). Other genes associated with partial lipodystrophy are LMNA and LMNB2. Neonatal progeroid syndrome (NPS, also known as Wiedemann–Rautenstrauch syndrome, OMIM 264090) was first described by Rautenstrauch and Snigula [1977] in two sisters. Wiedemann [1979] reported two unrelated male infants with strikingly similar features to the patients described before, and suggested that they represent a previously not delineated progeroid disorder with neonatal onset. This was in contrast to the classical Hutchinson–Gilford progeria, Werner syndrome, Cockayne syndrome, and mandibuloacral dysplasia syndromes in which features of premature human aging become apparent during early and late childhood.

Thirty-two patients with NPS have been described [Arboleda et al., 2007; Rautenstrauch et al., 1994; Castineyra et al., 1992; Petty et al., 1990], although a few of the reported cases had a strikingly different phenotype. Considerable phenotypic heterogeneity is obviously present in this syndrome. In most cases of NPS, survival is short. Only four patients have been reported who had reached the age of 10 years or more [Arboleda, O’Neill, Rautenstrauch and Snigula, 1977]. The responsible gene has not yet been detected. The mode of inheritance is suggested to be autosomal recessive on the basis of observation in three pedigrees [Arblaster, Arboleda, Castineyra, Rautenstrauch and Snigula].